Results for the protein: Q9UBP0

Results for the Protein: Q9UBP0

12230611

6683

SPAST

NCBI, UniProt

SPAST_HUMAN RecName: Full=Spastin; AltName: Full=Spastic paraplegia 4 protein

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 4
  SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (SPG4)
  SPASTIC PARAPLEGIA 4, MODIFIER OF

74

22

12

0

84

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Default View: MIT - smart00745 AAA - smart00382 AAA_5 - pfam07728	Swiss-Prot Protein: Q9UBP0 Identical to: NP_055761 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AAA	smart00382	4.6e-18	374	510
AAA_5	pfam07728	0.00022	377	500

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067641	Disease	p.ALA409THR	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_019451	Disease	p.ALA551TYR	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027221	Disease	p.ALA485VAL	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027225	Disease	p.ALA556VAL	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027218	Disease	p.ARG460CYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_010198	Disease	p.ARG499CYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027228	Disease	p.ARG562GLN	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_010196	Disease	p.ARG424GLY	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027217	Disease	p.ARG459GLY	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067649	Disease	p.ARG498GLY	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067651	Disease	p.ARG514GLY	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027227	Disease	p.ARG562GLY	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_026761	Disease	p.ARG499HIS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027219	Disease	p.ARG460LEU	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_019442	Disease	p.ARG503LEU	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067576	Polymorphism	p.ARG562PRO	N/A
Swiss-Prot	VAR_067572	Disease	p.ARG460SER	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067636	Disease	p.ARG364THR	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_026762	Disease	p.ARG503TRP	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067653	Polymorphism	p.ASN579HIS	N/A
Swiss-Prot	VAR_027210	Disease	p.ASN386LYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_019440	Disease	p.ASN386SER	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067645	Disease	p.ASP441ASN	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027224	Disease	p.ASP555ASN	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027216	Disease	p.ASP441GLY	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_026760	Disease	p.ASP493GLY	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_010199	Disease	p.ASP584HIS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027220	Disease	p.ASP470VAL	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_010197	Disease	p.CYS448TYR	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027206	Disease	p.GLN347LYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067647	Polymorphism	p.GLU464ALA	N/A
Swiss-Prot	VAR_027223	Disease	p.GLU512ASP	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067564	Polymorphism	p.GLU356LYS	N/A
Swiss-Prot	VAR_067571	Disease	p.GLU454LYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027208	Disease	p.GLY370ARG	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067566	Polymorphism	p.GLY382ARG	N/A
Swiss-Prot	VAR_027226	Disease	p.GLY559ASP	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067634	Polymorphism	p.ILE328LEU	N/A
Swiss-Prot	VAR_019448	Disease	p.ILE344LYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067654	Disease	p.ILE580THR	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_026759	Disease	p.ILE406VAL	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067637	Disease	p.LEU378ARG	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_019439	Disease	p.LEU378GLN	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067638	Disease	p.LEU380HIS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067569	Polymorphism	p.LEU422PHE	N/A
Swiss-Prot	VAR_067643	Disease	p.LEU426PHE	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067648	Disease	p.LEU492PHE	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067639	Disease	p.LEU391PRO	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_019444	Disease	p.LEU534PRO	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067633	Polymorphism	p.LEU314SER	N/A
Swiss-Prot	VAR_026758	Disease	p.LEU195VAL	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067635	Polymorphism	p.LEU360VAL	N/A
Swiss-Prot	VAR_027213	Disease	p.LEU426VAL	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067575	Polymorphism	p.LEU534VAL	N/A
Swiss-Prot	VAR_027211	Disease	p.LYS388ARG	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_019441	Disease	p.MET390VAL	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027209	Disease	p.PHE381CYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027205	Polymorphism	p.PRO45GLN	N/A
Swiss-Prot	VAR_067632	Disease	p.PRO293LEU	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027207	Disease	p.PRO361LEU	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027214	Disease	p.PRO435LEU	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_027222	Disease	p.PRO489LEU	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067565	Polymorphism	p.PRO365SER	N/A
Swiss-Prot	VAR_067628	Polymorphism	p.PRO97THR	N/A
Swiss-Prot	VAR_019450	Disease	p.SER407ARG	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067642	Disease	p.SER410ARG	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067570	Polymorphism	p.SER445ASN	N/A
Swiss-Prot	VAR_010195	Disease	p.SER362CYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067630	Polymorphism	p.SER229GLY	N/A
Swiss-Prot	VAR_067567	Polymorphism	p.SER407ILE	N/A
Swiss-Prot	VAR_027212	Disease	p.SER399LEU	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067568	Disease	p.SER413LEU	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_010194	Polymorphism	p.SER44LEU	N/A
Swiss-Prot	VAR_027215	Disease	p.SER436PHE	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067644	Disease	p.SER436PRO	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067646	Disease	p.THR463ALA	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067652	Polymorphism	p.THR550ILE	N/A
Swiss-Prot	VAR_019445	Disease	p.THR614ILE	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_019452	Disease	p.THR615ILE	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_026763	Disease	p.TRP607CYS	Spastic paraplegia 4, autosomal dominant (SPG4)
Swiss-Prot	VAR_067629	Polymorphism	p.VAL201ASP	N/A
Swiss-Prot	VAR_067563	Polymorphism	p.VAL162ILE	N/A
Swiss-Prot	VAR_035902	Polymorphism	p.VAL423LEU	N/A
Swiss-Prot	VAR_067573	Polymorphism	p.VAL482LEU	N/A
OMIM	604277.0004	Disease	p.ARG499CYS	SPASTIC PARAPLEGIA 4
OMIM	604277.0018	Disease	p.ARG562GLY	SPASTIC PARAPLEGIA 4
OMIM	604277.0014	Disease	p.ASN386SER	SPASTIC PARAPLEGIA 4
OMIM	604277.0009	Disease	p.ASP441GLY	SPASTIC PARAPLEGIA 4
OMIM	604277.0016	Disease	p.ASP470VAL	SPASTIC PARAPLEGIA 4
OMIM	604277.0002	Disease	p.CYS448TYR	SPASTIC PARAPLEGIA 4
OMIM	604277.0013	Disease	p.ILE344LYS	SPASTIC PARAPLEGIA 4
OMIM	604277.0007	Disease	p.LYS229TER	SPASTIC PARAPLEGIA 4
OMIM	604277.0017	Disease	p.PRO45GLN	SPASTIC PARAPLEGIA 4, MODIFIER OF
OMIM	604277.0021	Disease	p.SER445ARG	SPASTIC PARAPLEGIA 4
OMIM	604277.0001	Disease	p.SER362CYS	SPASTIC PARAPLEGIA 4
OMIM	604277.0015	Disease	p.SER44LEU	SPASTIC PARAPLEGIA 4, MODIFIER OF

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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